| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Autism +19 more | |
| | | Single nucleotide variant (missense variant +1 more) | Recurrent fever +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cryptorchidism +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cryptorchidism +1 more | |
Click to view in NCBI Gene